摘要
目的探讨叶酸代谢相关基因蛋氨酸合成酶(MTRR)和5,10-亚甲基四氢叶酸脱氢酶1(MTHFD1L)单核苷酸多态与先天小耳性畸形发病风险的关系。方法收集2012—2014年江苏省内3家医院先天小耳畸形患者180例,对照组141人来自同期健康体检者;采用多重聚合酶链反应(PCR)和多重连接酶检测反应(LDR)扩增方法进行基因分型,采用下χ2检验进行MTRR和MTHFD1L单核苷酸多态性与先天性小耳畸形关联分析。结果病例组中MTRR rs1801394基因的AA型为53.89%,AG型为41.67%,GG型为4.44%;对照组中MTRR rs1801394基因的AA型为47.52.%,AG型为43.97%,GG型为8.51%,其在病例组与对照组中的基因型频率分布差异无统计学意义(P>0.05)。病例组中MTHFD1L rs1950902的TT型为6.11%,CT型为40.00%,CC型为53.88%;对照组中M THFD1L rs1950902的TT型为8.51%,CT型为43.26%,CC型为48.23%,其在病例组与对照组中的基因型频率分布差异无统计学意义(P>0.05);进一步进行不同性别分层分析,发现不同性别中MTRR rs1801394和M THFD1L rs1950902基因型频率分布差异无统计学意义(P>0.05),且M TRR rs1801394和M THFD1L rs1950902等位基因型频率分布差异也无统计学意义(P>0.05)。结论 M TRR rs1801394和M THFD1L rs1950902多态性位点与先天小耳畸形的遗传易感性无关。
Objective To explore the relationship between methionine synthase reductase（ MTRR） and 5,10-methy-lenetetrahydrofolate dehydrogenase（ MTHFD1L） gene polymorphism and microtia. Methods Totally 180 microtia cases and 141 age-matched healthy physical examinees were recruited at 3 hospitals in Jiangsu province between 2012- 2014. The genotypes of MTRR and MTHFD1 L of the participants were examined with multiple PCR and multiple ligase detection reaction（ LDR）. Frequencies and allele distribution of MTRR and MTHFD1 L gene between cases and controls were compared with Chi-square test. Results The genotype ratios of MTRR rs1801394 were 54% for AA,42% for AG,and 4% for GG in the cases and 48% for AA,44% for AG,and 9% for GG in the controls,without statistically significant difference between the two groups（ P〉 0. 05）. The genotype ratios of MTHFD1 L rs1950902 were 6% for TT,40% for CT,and 54% for CC in the cases and 9% for TT,43% for CT,and 48% for CC in the controls,without statistically significant difference between the two groups（ P 〉 0. 05）. No significant gender-difference in the genotype distribution of MTRR rs1801394 and MTHFD1 L rs1950902 was observed（ P 〉 0. 05）. The allele distribution of MTRR rs1801394 and MTHFD1 L rs1950902 were not significantly different between the cases and the controls（ P 〉 0. 05）. Conclusion The single nucleotide polymorphism of MTRR and MTHFD1 L genes may not be correlated to genetic susceptibility of microtia.
出处
《中国公共卫生》
CAS
CSCD
北大核心
2016年第3期302-306,共5页
Chinese Journal of Public Health
基金
江苏省科技支撑计划-社会发展项目(BE2011817)
江苏省333工程项目(2013)
江苏省六大人才高峰项目(2013-WSW-053)
关键词
先天性小耳畸形
MTRR
MTHFD1L
基因多态性
microtia
methionine synthase reductase
5
10-methylenetetrahydrofolate dehydrogenase
gene polymorphism
